| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3102 | DHRS9 | Zornitza Stark Marked gene: DHRS9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3102 | DHRS9 | Zornitza Stark Gene: dhrs9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3102 | DHRS9 | Zornitza Stark Classified gene: DHRS9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3102 | DHRS9 | Zornitza Stark Gene: dhrs9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3101 | DHRS9 |
Zornitza Stark gene: DHRS9 was added gene: DHRS9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DHRS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHRS9 were set to 40945732; 32752300; 38256219 Phenotypes for gene: DHRS9 were set to Genetic epilepsy, MONDO:0100575, DHRS9 Review for gene: DHRS9 was set to AMBER Added comment: PMID 40945732: Single individual reported with compound heterozygous missense variants, c.605C>T (p.S202L); c.856G>C (p.D286H) and early onset epilepsy. Functional studies conducted on both variants separately, demonstrating loss of function. PMID 32752300: compound het missense variants in an individual with epilepsy. PMID 38256219: put forward as a candidate gene in an epilepsy cohort, compound het missense variants identified c.785C>T (p.Ser262Leu) and c.1036G>C (p.Asp346His). Sources: Literature |
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